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[1]
Thomas GR(1995)The Wilson disease gene: spectrum of mutations and their consequences Nat Genet 9 210-7
[2]
Forbes JR(2007)Function and regulation of human copper-transporting ATPases Physiol Rev 87 1011-46
[3]
Roberts EA(2010)Genetics of Wilsons disease Parkinsonism Relat Disord 16 639-44
[4]
Walshe JM(2007)Sequence variation database for the Wilson disease copper transporter, ATP7B Hum Mutat 28 1171-7
[5]
Cox DW(2020)WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s disease Sci Rep 10 9037-98
[6]
Lutsenko S(2019)Wilson’s disease: clinical practice guidelines of the Indian national association for study of the liver, the Indian society of pediatric gastroenterology, hepatology and nutrition, and the movement disorders society of India J Clin Exp Hepatol 9 74-24
[7]
Barnes NL(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-7
[8]
Bartee MY(2015)Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson disease in a regional Indian cohort Gene 569 83-32
[9]
Dmitriev OY(2003)Genetic variation in the promoter and 5’ UTR of the copper transporter, ATP7B, in patients with wilson disease Clin Genet 64 429-81
[10]
Behari M(2014)Genetic defects in Indian Wilson disease patients and genotype phenotype correlation Parkinsonism Relat Disord 20 75-307